Cambridge University Hospitals NHS Foundation Trust

3. Mrs K complains Cambridge University Hospitals NHS Foundation Trust did not offer her genetic testing in August 2023, despite her family history of cancer.

4. Mrs K says not being tested caused her stress not knowing her own risks of getting cancer.

5. Mrs K wants service improvements and to know if being refused testing was correct.

6. Mrs K’s sister was diagnosed with breast cancer age 49, her paternal aunt died of breast cancer and grandmother from ovarian cancer.

7. Mrs K was referred by her GP to the Trust’s genetics team in August 2023.

11. Before we decide if we should conduct a detailed investigation of a complaint, we look at whether there are signs the organisation got something wrong. We do this by comparing what should have happened with what did happen. We have done this and have not found any indications that something has gone wrong.

12. Mrs K complains the Trust wrongly refused her genetic testing in August 2023. Mrs K says this caused her distress and anxiety not knowing her own risks as there was a family history of female cancer.

13. The Trust said at the time of Mrs K’s initial referral she did not meet the criteria for genetic testing.

14. NHS, Testing Criteria for Rare and Inherited Disease in relation to inherited breast cancer and ovarian cancer says, all the following criteria must be met to meet the genetic screening criteria for a living unaffected individual (someone without a diagnosis of cancer). They should have: • A first degree relative with a diagnosis breast or serious ovarian cancer • A combined pathology-adjusted Manchester score of >20 or BOADICEA/CanRisk score of >20% for an affected relative or BOADICEA/CanRisk score of >10% for an unaffected relative • No living individual with a cancer diagnosis is available for genetic testing • No deceased individual who had cancer with tumour material available for testing.

15. The Manchester (Evans) score allows for calculation of the probability of pathogenic variants in the BCRA1 and BRCA2 genes using information about family members' cancers. The CanRisk and BOADICEA are tools to calculate breast and ovarian cancer risks.

16. The records show in August 2023 Mrs K’s GP referred her for genetic testing because her sister had breast cancer at that time and she had female relatives that had died from breast and ovarian cancer.

17. The Trust received the referral in late August and wrote to Mrs K in early September asking her to share her family history. The Trust noted Mrs K’s sister declined genetic testing at that time.

18. The Trust’s decision to refuse Mrs K testing at that time is in line with NHS criteria for genetic screening as she did not meet all four of the testing criteria. This was because although Mrs K had a sister affected by cancer she did not want to engage with genetic testing and meant point three of the criteria was not met.

19. The records show Mrs K told the Trust her sister agreed to complete testing in late October 2023. The Trust received Mrs K’s sisters test results in mid-January 2024 finding the PALB2 gene mutation which maintains the integrity of a cell, was faulty and increases the risk of getting cancer.

20. Our adviser said for specific cancer genetic testing to be completed, material from a relative needs to be tested in a laboratory to identify the cancer gene at fault.

21. We can see once Mrs K’s sister agreed to go ahead with the genetic screening in October 2023 the Trust agreed to begin Mrs K’s testing once it received her sister’s test results.

22. Based on the evidence we have seen and the advice we received, the Trust acted in line with the appropriate NHS genetic guidelines for not initially starting genetic testing for Mrs K as an affected living relative was not available for testing. This changed when her sister agreed to the testing.

23. We understand and acknowledge the distress Mrs K experienced not knowing if she or her daughters could inherit the cancer gene. We hope our explanation goes some way to explain how the Trust acted appropriately with the testing process it completed.

1. We have carefully considered Mrs K’s complaint about Cambridge University Hospitals NHS Foundation Trust (the Trust). We are sorry to hear about the difficulties Mrs K experienced in getting genetic screening. We understand how distressing it is to feel you are not getting the testing you need.

2. We have seen the Trust acted in line with guidance. We hope this statement explains our decision.